Kết quả tìm kiếm - Alejandro Martin-Trujillo
- Đang hiển thị 1 - 7 kết quả của 7
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1
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes† Bằng Kazuhiko Nakabayashi, Alejandro Martin Trujillo, Chiharu Tayama, Cristina Camprubí, Wataru Yoshida, Pablo Lapunzina, Aurora Sánchez, Hidenobu Soejima, Hiroyuki Aburatani, Genta Nagae, Tsutomu Ogata, Kenichiro Hata, David Monk
Được phát hành 2011Artigo -
2
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting Bằng Marta Sánchez-Delgado, Alejandro Martin-Trujillo, Chiharu Tayama, Enrique Vidal, Manel Esteller, Isabel Iglesias‐Platas, Nandita Deo, Olivia Barney, Ken Maclean, Kenichiro Hata, Kazuhiko Nakabayashi, Rosemary A. Fisher, David Monk
Được phát hành 2015Artigo -
3
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects Bằng Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, Francesca Marta Elli, Intza Garin, Agnès Linglart, Giovanna Mantovani, Guiomar Pérez de Nanclares, Suzanne Thiele, Brigitte Decallonne, Chris Van Geet, David Monk, Kathleen Freson
Được phát hành 2016Artigo -
4
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions Bằng Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp
Được phát hành 2020Artigo -
5
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism Bằng Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina
Được phát hành 2010Artigo -
6
Identification of rare de novo epigenetic variations in congenital disorders Bằng Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William T. Gibson, Kelsey Chetnik, Chloé Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fátima Lopes, Lisenka E.L.M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patrı́cia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Được phát hành 2018Artigo -
7
Increased frequency of repeat expansion mutations across different populations Bằng Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, Chiara Marini‐Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D. Long, Pietro Fratta, Douglas R. Langbehn, Sarah J. Tabrizi, Mark J. Caulfield, Andrea Cortese, Valentina Escott‐Price, John Hardy, Henry Houlden, Andrew J. Sharp, Arianna Tucci
Được phát hành 2024Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
DNA methylation
Gene expression
Genome
Genomic imprinting
Methylation
Phenotype
Allele
Differentially methylated regions
Epigenetics
Human genome
Imprinting (psychology)
Medicine
Computational biology
Environmental health
Population
Allele frequency
Beckwith–Wiedemann syndrome
Bioinformatics
CTCF
Calcium
Chromosome
Copy-number variation
CpG site
DNA sequencing
Demography
Disease
Enhancer